Results 81 to 90 of about 4,222 (202)
Archives of pathology & laboratory medicine, 1978 Nemaline myopathy occurred sporadically in a 59-year-old woman. She had slowly progressive weakness. A muscle biopsy specimen showed nemaline rods, increased variation in fiber size, apparent loss of Type IIb fiber differentiation, and a "moth-eaten" pattern of the intermyofibrillar network.
S M, Greenwood, F J, Viozzi
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Nemaline Myopathy: Respiratory Failure
Pediatric Neurology Briefs, 1991 A Japanese boy with nemaline myopathy diagnosed at three years of age and complicated by severe respiratory failure at 8 years is reported from the Division of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, Kodaira,
J Gordon Millichap
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Genetic and Structural Variations in Czech Patients With Congenital Myopathies
Clinical Genetics, Volume 108, Issue 6, Page 678-683, December 2025.We present 79 unrelated patients with genetically confirmed congenital myopathy (CM). A total of 113 mutant alleles carrying 97 different variants with a presumed pathogenic effect were identified. All but five variants were small scale. The mode of inheritance was autosomal dominant (AD) (44.3%), autosomal recessive (AR) (43.0%), and X‐linked (XL) (12.
Jana Zídková +26 more
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Revista Médica Clínica Las Condes, 2018 : Congenital myopathies are a group of primary hereditary, clinically and genetically heterogeneous skeletal muscle disorders, defined according to histopathologic lesions observed in muscle biopsies.
Edoardo Malfatti, MD, PhD
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The dynamics of the β-propeller domain in Kelch protein KLHL40 changes upon nemaline myopathy-associated mutation [PDF]
, 2016 Evolutionarily widespread, functionally and structurally diverse and still largely unexplored, Kelch proteins, characterized by the presence of a conserved C-terminal β-propeller, are implicated in a number of diverse fundamental biological functions ...
BORTOLOTTI, Carlo Augusto +4 more
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In Memoriam: W. King Engel, MD (1930–2025)
Annals of Neurology, Volume 99, Issue 3, Page 563-565, March 2026.
Marinos C. Dalakas, Steven P. Ringel
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Health Expectations, Volume 28, Issue 6, December 2025.ABSTRACT Introduction Neuromuscular diseases (NMDs) impose multifaceted challenges on individuals and their families, often resulting in significant medical and non‐medical expenses. While cost‐of‐illness (COI) studies provide valuable quantitative data, few explore the lived experience of financial strain.
Homira Osman +13 more
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Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy
Disease Models & Mechanisms, 2015 Nemaline myopathy (NM) is one of the most common forms of congenital myopathy, and affects either fast myofibers, slow myofibers, or both. However, an animal model for congenital myopathy with fast-myofiber-specific atrophy is not available. Furthermore,
Lei Tian +7 more
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Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies [PDF]
, 2017 Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD).
Appleton, Richard +21 more
core
OXPHOS complex deficiency in congenital myopathy: A systematic review
European Journal of Clinical Investigation, Volume 55, Issue 11, November 2025.This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
Megan J. du Preez +4 more
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